About mitochondrial diseases
Introduction
Mitochondria are tiny organelles that are in almost all body cells and are made up of tiny packages of enzymes that are responsible for turning nutrients into cellular energy. This makes mitochondria very vital for the body to be able to sustain life and growth. Mitochondrial diseases are common, fatal genetic disorders that occur when the mitochondria cells are unable to produce enough energy required for the proper functioning of the cells and organs of the body. Most mitochondrial diseases are inherited and run in families while others result from mitochondrial toxins. The diseases can be inherited through DNA where if a family member is affected, there is 25% chance that a sibling will contract the diseases. It can also be inherited through gene trait dominance whereby, if a family member has the mitochondrial diseases, there is 50% chance that the sibling will suffer from the diseases. Mitochondrial diseases present themselves differently in people.
Symptoms of mitochondrial diseases
The symptoms of mitochondrial diseases appear differently in people according to the affected organs and the severity of the disease present. The following are the main symptoms of mitochondrial diseases.
- Poor growth
- Delays in development and learning
- Heart, kidney or liver diseases
- Muscle weakness and poor coordination
- Hearing and visual problems
- Seizures
- Neurological problems
- Severe constipation and gastrointestinal disorders
- Autism
- Memory loss and confusion
- Adrenal dysfunction
- Diabetes
- Increased risk of contracting infections
- Respiratory problems
- Movement disorders
- Swallowing difficulties
Diagnosis and treatment of mitochondrial diseases
Diagnosis
A doctor should suspect mitochondrial diseases if:
- a common simple disease has a unique feature
- three or more body organs are not functioning properly
- a chronic disease has been recurring with new infections
However, there is no any reliable means of diagnosing mitochondrial diseases but specialized doctors can recognize the diseases without much stress. In some cases, a blood DNA test or a muscle biopsy is conducted but they are not as reliable.
Treatment
There is no treatment for mitochondrial disease. The treatment given to the patient aims at improving the symptoms. The treatment involves:
- vitamin and energy conserving therapy
- maintaining ambient environmental temperatures for the patient
- good nutrition and hydration
- pace activities
- avoiding exposure to illness that may worsen the condition
- reducing stress for the patient
Challenges of living with mitochondrial diseases
- Lack and poor awareness of the mitochondrial diseases
- The diseases affect multiple organs and even generations
- Mitochondrial diseases are unpredictable: a patient can appear healthy and at peace and the next minute the patient is critically ill to a point that is life threatening
- The difficulty of establishing a proper diagnosis and the fact that it affects multiple organs interfere with the patient's ability to receive good medical attention, insurance coverage and other necessary services
- Lack of understanding can lead to misdiagnosis that can cause further complications if the medication allocated reacts with the patient's body
- It has no specific time of attack. A person can become suggestive at anytime in life
- There is no proper and reliable means of diagnosing the mitochondrial diseases
- There is no cure of the diseases
